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Eva Morava

Showing results (211-220 of 355) with videos related to

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American Journal of Medical Genetics. Part A|October 24, 2020
Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillanceKarthik Muthusamy, Christian Hanna, Derek R Johnson, et al.
American Journal of Medical Genetics. Part A|March 14, 2012
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunctionStefania Zampatti, Marco Castori, Bjoern Fischer, et al.
European Journal of Medical Genetics|October 29, 2017
Congenital disorders of glycosylation (CDG): Quo vadis?Romain Péanne, Pascale de Lonlay, François Foulquier, et al.
Clinical Chemistry|November 25, 2003
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolismUdo F H Engelke, Maria L F Liebrand-van Sambeek, Jan G N de Jong, et al.
Clinical Chemistry|October 28, 2003
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesisSuzan Wopereis, Stephanie Grünewald, Eva Morava, et al.
Molecular Genetics and Metabolism|November 10, 2016
Autism in patients with propionic acidemiaPeter Witters, Eric Debbold, Kea Crivelly, et al.
Molecular Genetics and Metabolism|June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluationRoni Zemet, Kyle D Hope, Andrew C Edmondson, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defectsPaulien Smits, Sandy Mattijssen, Eva Morava, et al.
Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
Molecular Genetics and Metabolism|May 24, 2023
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylationDiederik De Graef, Anna N Ligezka, Joseph Rezents, et al.
Pageof 36

Showing results (211-220 of 355) with videos related to

Sort By:
Pageof 36
American Journal of Medical Genetics. Part A|October 24, 2020
Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillanceKarthik Muthusamy, Christian Hanna, Derek R Johnson, et al.
American Journal of Medical Genetics. Part A|March 14, 2012
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunctionStefania Zampatti, Marco Castori, Bjoern Fischer, et al.
European Journal of Medical Genetics|October 29, 2017
Congenital disorders of glycosylation (CDG): Quo vadis?Romain Péanne, Pascale de Lonlay, François Foulquier, et al.
Clinical Chemistry|November 25, 2003
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolismUdo F H Engelke, Maria L F Liebrand-van Sambeek, Jan G N de Jong, et al.
Clinical Chemistry|October 28, 2003
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesisSuzan Wopereis, Stephanie Grünewald, Eva Morava, et al.
Molecular Genetics and Metabolism|November 10, 2016
Autism in patients with propionic acidemiaPeter Witters, Eric Debbold, Kea Crivelly, et al.
Molecular Genetics and Metabolism|June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluationRoni Zemet, Kyle D Hope, Andrew C Edmondson, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defectsPaulien Smits, Sandy Mattijssen, Eva Morava, et al.
Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
Molecular Genetics and Metabolism|May 24, 2023
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylationDiederik De Graef, Anna N Ligezka, Joseph Rezents, et al.
Pageof 36